{ "url": "https://dantelabs.com/de/genes/chat", "gene": { "slug": "chat", "symbol": "CHAT", "name": "choline O-acetyltransferase", "hgnc": "HGNC:1912", "summary": null, "location": "10q11.23", "locusType": "gene with protein product", "aliases": [ "CHOACTase" ], "previousSymbols": [], "ensemblId": "ENSG00000070748", "entrezId": 1103, "omim": [ "118490" ], "uniprot": [ "P28329" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 49614037, "end": 49667942, "strand": "+", "ensemblTranscript": "ENST00000337653.7", "refseqTranscript": "NM_020549.5", "ensemblProtein": "ENSP00000337103.2", "refseqProtein": "NP_065574.4", "exons": [ { "start": 49614037, "end": 49614475 }, { "start": 49616502, "end": 49616602 }, { "start": 49619725, "end": 49619916 }, { "start": 49620495, "end": 49620613 }, { "start": 49622097, "end": 49622150 }, { "start": 49625473, "end": 49625653 }, { "start": 49627608, "end": 49627785 }, { "start": 49646505, "end": 49646674 }, { "start": 49648507, "end": 49648607 }, { "start": 49649508, "end": 49649636 }, { "start": 49651884, "end": 49652006 }, { "start": 49655095, "end": 49655236 }, { "start": 49655386, "end": 49655448 }, { "start": 49662645, "end": 49662782 }, { "start": 49664777, "end": 49667942 } ], "cds": { "start": 49614190, "end": 49665046 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 50817141, "end": 50901925, "strand": "+" }, "neighbourhood": { "release": "116", "start": 49140990, "end": 50140989, "genes": [ { "symbol": "TMEM273", "ensemblId": "ENSG00000204161", "biotype": "protein_coding", "start": 49153753, "end": 49188585, "strand": "-", "slug": "tmem273" }, { "symbol": "C10orf71", "ensemblId": "ENSG00000177354", "biotype": "protein_coding", "start": 49299137, "end": 49329924, "strand": "+", "slug": "c10orf71" }, { "symbol": "DRGX", "ensemblId": "ENSG00000165606", "biotype": "protein_coding", "start": 49364065, "end": 49398484, "strand": "-", "slug": "drgx" }, { "symbol": "ERCC6", "ensemblId": "ENSG00000225830", "biotype": "protein_coding", "start": 49454168, "end": 49539538, "strand": "-", "slug": "ercc6" }, { "symbol": "SLC18A3", "ensemblId": "ENSG00000187714", "biotype": "protein_coding", "start": 49610310, "end": 49612720, "strand": "+", "slug": "slc18a3" }, { "symbol": "C10orf53", "ensemblId": "ENSG00000178645", "biotype": "protein_coding", "start": 49679638, "end": 49710261, "strand": "+", "slug": "c10orf53" }, { "symbol": "OGDHL", "ensemblId": "ENSG00000197444", "biotype": "protein_coding", "start": 49721386, "end": 49762392, "strand": "-", "slug": "ogdhl" }, { "symbol": "PARG", "ensemblId": "ENSG00000227345", "biotype": "protein_coding", "start": 49815132, "end": 49970203, "strand": "-", "slug": "parg" }, { "symbol": "TIMM23B", "ensemblId": "ENSG00000204152", "biotype": "protein_coding", "start": 49942031, "end": 49977625, "strand": "+", "slug": "timm23b" }, { "symbol": "TIMM23B-AGAP6", "ensemblId": "ENSG00000178440", "biotype": "protein_coding", "start": 49942056, "end": 50011654, "strand": "+", "slug": "timm23b-agap6" }, { "symbol": "AGAP6", "ensemblId": "ENSG00000204149", "biotype": "protein_coding", "start": 49982190, "end": 50011654, "strand": "+", "slug": "agap6" }, { "symbol": "WASHC2A", "ensemblId": "ENSG00000099290", "biotype": "protein_coding", "start": 50067881, "end": 50136578, "strand": "+", "slug": "washc2a" } ], "truncated": false }, "reports": [ { "slug": "congenital-myasthenic-syndrome", "name": "Kongenitales myasthenes Syndrom", "diseases": [ { "mondoId": "MONDO:0009689", "name": "Kongenitales myasthenes Syndrom 6", "genes": 1, "inheritance": "autosomal-recessive", "description": "Kongenitales myasthenes Syndrom, das durch Mutation(en) im CHAT-Gen verursacht wird, welches für die Cholin-O-Acetyltransferase kodiert. Es wird autosomal-rezessiv vererbt.", "management": null, "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0018940", "name": "Kongenitales myasthenes Syndrom (alle Typen)", "genes": 27, "inheritance": null, "description": "Sammelbegriff für alle kongenitalen myasthenen Syndrome, einschließlich der häufigen Formen mit CHRNE, RAPSN, DOK7 und MUSK.", "management": "Viele Formen sprechen auf bestimmte Medikamente wie Pyridostigmin, Salbutamol oder Ephedrin an, und welche Wahl richtig ist, hängt vom beteiligten Gen ab.", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/congenital-myasthenic-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "apneic-episodes-precipitated-by-illness-fatigue-stress", "name": "Apneic episodes precipitated by illness, fatigue, stress", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/apneic-episodes-precipitated-by-illness-fatigue-stress" }, { "slug": "arthrogryposis-multiplex-congenita", "name": "Arthrogryposis multiplex congenita", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "bulbar-palsy", "name": "Bulbar palsy", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bulbar-palsy" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "respiratory-insufficiency-due-to-muscle-weakness", "name": "Decreased lung function due to weak breathing muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness" }, { "slug": "decreased-miniature-endplate-potentials", "name": "Decreased miniature endplate potentials", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-miniature-endplate-potentials" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation", "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation" }, { "slug": "fatigable-weakness", "name": "Fatigable weakness", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatigable-weakness" }, { "slug": "generalized-hypotonia-due-to-defect-at-the-neuromuscular-junction", "name": "Generalized hypotonia due to defect at the neuromuscular junction", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia-due-to-defect-at-the-neuromuscular-junction" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "sudden-episodic-apnea", "name": "Sudden episodic apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/sudden-episodic-apnea" }, { "slug": "type-2-muscle-fiber-atrophy", "name": "Type 2 muscle fiber atrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/type-2-muscle-fiber-atrophy" }, { "slug": "weak-cry", "name": "Weak cry", "systems": [ "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/weak-cry" }, { "slug": "ophthalmoparesis", "name": "Weakness of muscles controlling eye movement", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ophthalmoparesis" } ], "related": [ { "slug": "agrn", "symbol": "AGRN", "name": "agrin", "shared": 1, "url": "https://dantelabs.com/de/genes/agrn" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/de/genes/alg2" }, { "slug": "chrna1", "symbol": "CHRNA1", "name": "cholinergic receptor nicotinic alpha 1 subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/chrna1" }, { "slug": "chrnb1", "symbol": "CHRNB1", "name": "cholinergic receptor nicotinic beta 1 subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/chrnb1" }, { "slug": "chrnd", "symbol": "CHRND", "name": "cholinergic receptor nicotinic delta subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/chrnd" }, { "slug": "chrne", "symbol": "CHRNE", "name": "cholinergic receptor nicotinic epsilon subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/chrne" }, { "slug": "col13a1", "symbol": "COL13A1", "name": "collagen type XIII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/de/genes/col13a1" }, { "slug": "colq", "symbol": "COLQ", "name": "collagen like tail subunit of asymmetric acetylcholinesterase", "shared": 1, "url": "https://dantelabs.com/de/genes/colq" }, { "slug": "dok7", "symbol": "DOK7", "name": "docking protein 7", "shared": 1, "url": "https://dantelabs.com/de/genes/dok7" }, { "slug": "dpagt1", "symbol": "DPAGT1", "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1", "shared": 1, "url": "https://dantelabs.com/de/genes/dpagt1" }, { "slug": "gfpt1", "symbol": "GFPT1", "name": "glutamine--fructose-6-phosphate transaminase 1", "shared": 1, "url": "https://dantelabs.com/de/genes/gfpt1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }